Varaico: Literature-Extracted Genetic Variants

USH2A

1,687 papers

RefSeq Summary

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in developmen...

Pfam Domains

Laminin_G_3aa 130–286UCSCConcanavalin A-like lectin/glucanases superfamily

Laminin_Naa 293–516UCSCLaminin N-terminal (Domain VI)

EGF_lamininaa 518–566UCSCLaminin EGF domain

EGF_lamininaa 575–634UCSCLaminin EGF domain

EGF_lamininaa 641–691UCSCLaminin EGF domain

EGF_lamininaa 694–744UCSCLaminin EGF domain

Gene Aliases

HGNC Name

usherin

HGNC Previous Symbol

USH2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_206933.4

p.T2594_A2595del2

c.7780_7784del6

Surrounding Variants

2 papers

NM_206933.4

p.A2595T

c.7783G>A

1 paper

NM_206933.4

p.T2594delFs

c.7782delA

2 papers

NM_206933.4

p.K2597*

c.7789A>T

1 paper

NM_206933.4

p.T2594fs

c.7780_7781fs

1 paper

NM_206933.4

p.H2591_T2594delFs

c.7772_7781del10

1 paper

NM_206933.4

p.F2598C

c.7793T>G

1 paper

NM_206933.4

p.Y2593*

c.7779C>G

1 paper

NM_206933.4

p.Y2593*

c.7779C>A

1 paper

NM_206933.4

p.P2592P

c.7776A>G

1 paper

NM_206933.4

p.V2600V

c.7800A>G

1 paper

NM_206933.4

p.H2591fs

c.7771_7772fs

1 paper

NM_206933.4

p.L2590delFs

c.7769delA